ClinVar for MedGen (Select 1802991) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341293	NM_006846.4(SPINK5):c.1525dup (p.Ile509fs)	SPINK5 (I509fs)	Duplication (frameshift variant)	Netherton syndrome	GPathogenic
Select item 2664795	NM_006846.4(SPINK5):c.2452G>A (p.Ala818Thr)	SPINK5 (A818T)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2664761	NM_006846.4(SPINK5):c.2728A>G (p.Asn910Asp)	SPINK5 (N910D)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2579679	NM_006846.4(SPINK5):c.715dup (p.Cys239fs)	SPINK5 (C239fs)	Duplication (frameshift variant)	Netherton syndrome	GLikely pathogenic
Select item 2579678	NM_006846.4(SPINK5):c.2264del (p.Asn755fs)	SPINK5 (N755fs)	Deletion (frameshift variant)	Netherton syndrome	GLikely pathogenic
Select item 2500091	NM_006846.4(SPINK5):c.3158G>A (p.Gly1053Glu)	SPINK5 (G1053E +1 more)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2436313	NM_006846.4(SPINK5):c.2042G>A (p.Arg681Lys)	SPINK5 (R681K)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2425648	NC_000005.9:g.(?_147443608)_(147484583_?)del	SPINK5	Deletion	Netherton syndrome	GPathogenic
Select item 2420860	NM_006846.4(SPINK5):c.2234C>T (p.Ala745Val)	SPINK5 (A745V)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2418808	NM_006846.4(SPINK5):c.1414A>T (p.Met472Leu)	SPINK5 (M472L)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2197744	NM_006846.4(SPINK5):c.443A>C (p.Glu148Ala)	SPINK5 (E148A)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2194719	NM_006846.4(SPINK5):c.1892C>T (p.Thr631Ile)	SPINK5 (T631I)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2192699	NM_006846.4(SPINK5):c.1093-5G>A	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome	GUncertain significance
Select item 2173216	NM_006846.4(SPINK5):c.2624G>A (p.Gly875Asp)	SPINK5 (G875D)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2168705	NM_006846.4(SPINK5):c.2776A>C (p.Asn926His)	SPINK5 (N926H +1 more)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2155574	NM_006846.4(SPINK5):c.2612G>A (p.Arg871Gln)	SPINK5 (R871Q)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2144745	NM_006846.4(SPINK5):c.245A>G (p.His82Arg)	SPINK5 (H82R)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2140869	NM_006846.4(SPINK5):c.1724G>A (p.Arg575Lys)	SPINK5 (R575K)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2077671	NM_006846.4(SPINK5):c.3122G>T (p.Arg1041Leu)	SPINK5 (R1071L +1 more)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2041796	NM_006846.4(SPINK5):c.2213A>G (p.Asn738Ser)	SPINK5 (N738S)	Single nucleotide variant (missense variant)	Netherton syndrome +1 more	GUncertain significance
Select item 1991347	NM_006846.4(SPINK5):c.328A>G (p.Ile110Val)	SPINK5 (I110V)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1987697	NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)	SPINK5 (K824fs)	Microsatellite (frameshift variant)	Netherton syndrome +1 more	GPathogenic
Select item 1975973	NM_006846.4(SPINK5):c.882+19_882+20delinsGG	SPINK5	Indel (intron variant)	Netherton syndrome	GUncertain significance
Select item 1950233	NM_006846.4(SPINK5):c.2185C>T (p.Arg729Cys)	SPINK5 (R729C)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1934602	NM_006846.4(SPINK5):c.460A>G (p.Ser154Gly)	SPINK5 (S154G)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1928083	NM_006846.4(SPINK5):c.2478T>A (p.Asp826Glu)	SPINK5 (D826E)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1916874	NM_006846.4(SPINK5):c.2047G>C (p.Glu683Gln)	SPINK5 (E683Q)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1679111	NM_006846.4(SPINK5):c.1010+7A>G	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome	GUncertain significance
Select item 1568083	NM_006846.4(SPINK5):c.2667-13_2667-12insTT	SPINK5	Insertion (intron variant)	Netherton syndrome	GLikely benign
Select item 1521486	NM_006846.4(SPINK5):c.2564T>C (p.Met855Thr)	SPINK5 (M855T)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1521334	NM_006846.4(SPINK5):c.1135C>T (p.Leu379Phe)	SPINK5 (L379F)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1521038	NM_006846.4(SPINK5):c.4A>C (p.Lys2Gln)	SPINK5 (K2Q)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1518075	NM_006846.4(SPINK5):c.560G>A (p.Gly187Glu)	SPINK5 (G187E)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1517994	NM_006846.4(SPINK5):c.666+3A>G	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome	GUncertain significance
Select item 1515866	NM_006846.4(SPINK5):c.776C>A (p.Ala259Asp)	SPINK5 (A259D)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1501958	NM_006846.4(SPINK5):c.1586G>A (p.Cys529Tyr)	SPINK5 (C529Y)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1497899	NM_006846.4(SPINK5):c.2375G>A (p.Ser792Asn)	SPINK5 (S792N)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1493502	NM_006846.4(SPINK5):c.1034A>G (p.Lys345Arg)	SPINK5 (K345R)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1488618	NM_006846.4(SPINK5):c.1178G>A (p.Gly393Glu)	SPINK5 (G393E)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1475643	NM_006846.4(SPINK5):c.460A>C (p.Ser154Arg)	SPINK5 (S154R)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1468797	NM_006846.4(SPINK5):c.1278A>C (p.Gln426His)	SPINK5 (Q426H)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1462257	NM_006846.4(SPINK5):c.1844A>G (p.Glu615Gly)	SPINK5 (E615G)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1460724	NM_006846.4(SPINK5):c.1675A>G (p.Lys559Glu)	SPINK5 (K559E)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1456666	NM_006846.4(SPINK5):c.1732C>T (p.Arg578Ter)	SPINK5 (R578*)	Single nucleotide variant (nonsense)	Netherton syndrome +1 more	GPathogenic
Select item 1425163	NM_006846.4(SPINK5):c.173T>C (p.Met58Thr)	SPINK5 (M58T)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1417211	NM_006846.4(SPINK5):c.1820+53G>A	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +1 more	GUncertain significance
Select item 1410494	NM_006846.4(SPINK5):c.2885A>G (p.Glu962Gly)	SPINK5 (E962G +1 more)	Single nucleotide variant (missense variant)	Netherton syndrome +1 more	GUncertain significance
Select item 1408849	NM_006846.4(SPINK5):c.1165C>G (p.Gln389Glu)	SPINK5 (Q389E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1384979	NM_006846.4(SPINK5):c.56A>C (p.Asp19Ala)	SPINK5 (D19A)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1376942	NM_006846.4(SPINK5):c.1343G>A (p.Arg448Gln)	SPINK5 (R448Q)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1368894	NM_006846.4(SPINK5):c.526A>G (p.Thr176Ala)	SPINK5 (T176A)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1360988	NM_006846.4(SPINK5):c.2390G>A (p.Gly797Asp)	SPINK5 (G797D)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1355276	NM_006846.4(SPINK5):c.2387G>A (p.Arg796Gln)	SPINK5 (R796Q)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1347338	NM_006846.4(SPINK5):c.46C>T (p.Leu16Phe)	SPINK5 (L16F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1341884	NM_006846.4(SPINK5):c.1280del (p.Ser427fs)	SPINK5 (S427fs)	Deletion (frameshift variant)	Netherton syndrome	GLikely pathogenic
Select item 1325523	NM_006846.4(SPINK5):c.899A>G (p.Tyr300Cys)	SPINK5 (Y300C)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1325122	NM_006846.4(SPINK5):c.209+1G>A	SPINK5	Single nucleotide variant (splice donor variant)	Netherton syndrome	GLikely pathogenic
Select item 1299426	NM_006846.4(SPINK5):c.2891C>A (p.Ala964Glu)	SPINK5 (A964E +1 more)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1294234	NM_006846.4(SPINK5):c.2241-26T>C	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +2 more	GBenign
Select item 1294233	NM_006846.4(SPINK5):c.1093-26C>T	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +2 more	GBenign
Select item 1271448	NM_006846.4(SPINK5):c.1693-32C>T	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +1 more	GBenign
Select item 1246343	NM_006846.4(SPINK5):c.2313+48G>A	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +2 more	GBenign
Select item 1239601	NM_006846.4(SPINK5):c.82-31A>G	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +2 more	GBenign
Select item 1235049	NM_006846.4(SPINK5):c.1821-47T>G	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +1 more	GBenign
Select item 1229809	NM_006846.4(SPINK5):c.882+45_882+46insT	SPINK5	Insertion (intron variant)	not provided +2 more	GBenign
Select item 1226882	NM_006846.4(SPINK5):c.1431-39del	SPINK5	Deletion (intron variant)	Netherton syndrome +2 more	GBenign
Select item 1213696	NM_006846.4(SPINK5):c.1415T>C (p.Met472Thr)	SPINK5 (M472T)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa +1 more	GUncertain significance
Select item 1182656	NM_006846.4(SPINK5):c.2313+31C>G	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +2 more	GBenign
Select item 1097090	NM_006846.4(SPINK5):c.1971T>C (p.Asp657=)	SPINK5	Single nucleotide variant (synonymous variant)	Netherton syndrome	GLikely benign
Select item 1094554	NM_006846.4(SPINK5):c.2190T>C (p.Asp730=)	SPINK5	Single nucleotide variant (synonymous variant)	Netherton syndrome	GLikely benign
Select item 1072829	NC_000005.9:g.(?_147443360)_(147484583_?)del	SPINK5	Deletion	Netherton syndrome	GPathogenic
Select item 1061543	NM_006846.4(SPINK5):c.1832C>T (p.Ala611Val)	SPINK5 (A611V)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1057170	NM_006846.4(SPINK5):c.1216TTC[1] (p.Phe407del)	SPINK5 (F407del)	Microsatellite (inframe_deletion)	Netherton syndrome	GUncertain significance
Select item 1056455	NM_006846.4(SPINK5):c.359G>A (p.Gly120Asp)	SPINK5 (G120D)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1050956	NM_006846.4(SPINK5):c.1525A>G (p.Ile509Val)	SPINK5 (I509V)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1044683	NM_006846.4(SPINK5):c.1072G>A (p.Gly358Arg)	SPINK5 (G358R)	Single nucleotide variant (missense variant)	Netherton syndrome +1 more	GUncertain significance
Select item 1038101	NM_006846.4(SPINK5):c.2849A>G (p.Tyr950Cys)	SPINK5 (Y950C +1 more)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1032496	NM_006846.4(SPINK5):c.1702A>G (p.Ser568Gly)	SPINK5 (S568G)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1025845	NM_006846.4(SPINK5):c.2372A>C (p.Glu791Ala)	SPINK5 (E791A)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1019592	NM_006846.4(SPINK5):c.2447G>A (p.Arg816Lys)	SPINK5 (R816K)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1018089	NM_006846.4(SPINK5):c.587T>C (p.Met196Thr)	SPINK5 (M196T)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1015216	NM_006846.4(SPINK5):c.1961G>A (p.Arg654His)	SPINK5 (R654H)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1012378	NM_006846.4(SPINK5):c.882+1_882+3del	SPINK5	Microsatellite (splice donor variant)	not provided	GPathogenic
Select item 1011869	NM_006846.4(SPINK5):c.3166G>A (p.Ala1056Thr)	SPINK5 (A1056T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1009810	NM_006846.4(SPINK5):c.2548C>T (p.Arg850Cys)	SPINK5 (R850C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1006664	NM_006846.4(SPINK5):c.2386C>T (p.Arg796Trp)	SPINK5 (R796W)	Single nucleotide variant (missense variant)	Netherton syndrome +1 more	GUncertain significance
Select item 1001637	NM_006846.4(SPINK5):c.1774G>C (p.Asp592His)	SPINK5 (D592H)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 989374	NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter)	SPINK5 (R371*)	Single nucleotide variant (nonsense)	Netherton syndrome +1 more	GPathogenic
Select item 969741	NM_006846.4(SPINK5):c.464A>G (p.Asn155Ser)	SPINK5 (N155S)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 968176	NM_006846.4(SPINK5):c.652C>G (p.Arg218Gly)	SPINK5 (R218G)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 967195	NM_006846.4(SPINK5):c.2678C>G (p.Ala893Gly)	SPINK5 (A893G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 962790	NM_006846.4(SPINK5):c.2672G>A (p.Arg891Gln)	SPINK5 (R891Q)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 959280	NM_006846.4(SPINK5):c.3003G>C (p.Arg1001Ser)	SPINK5 (R1031S +1 more)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 959276	NM_006846.4(SPINK5):c.2390G>T (p.Gly797Val)	SPINK5 (G797V)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 956463	NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter)	SPINK5 (Q334*)	Single nucleotide variant (nonsense)	Netherton syndrome +1 more	GPathogenic
Select item 954997	NM_006846.4(SPINK5):c.1955C>T (p.Pro652Leu)	SPINK5 (P652L)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 954003	NM_006846.4(SPINK5):c.274C>G (p.Pro92Ala)	SPINK5 (P92A)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 948727	NM_006846.4(SPINK5):c.917A>G (p.Asn306Ser)	SPINK5 (N306S)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 947949	NM_006846.4(SPINK5):c.666G>T (p.Lys222Asn)	SPINK5 (K222N)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 947053	NM_006846.4(SPINK5):c.1498C>T (p.Arg500Trp)	SPINK5 (R500W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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